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P81408 (F189B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein FAM189B
Alternative name(s):
Protein COTE1
Gene names
Name:FAM189B
Synonyms:C1orf2, COTE1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length668 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

May interact with WWOX.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed.

Sequence similarities

Belongs to the FAM189 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionWW domain binding

Inferred from physical interaction Ref.5. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

WWOXQ9NZC72EBI-6366314,EBI-4320739

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: P81408-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform B (identifier: P81408-2)

The sequence of this isoform differs from the canonical sequence as follows:
     76-171: Missing.
Isoform 2 (identifier: P81408-3)

The sequence of this isoform differs from the canonical sequence as follows:
     76-94: Missing.
     207-207: T → TQ
Isoform 3 (identifier: P81408-4)

The sequence of this isoform differs from the canonical sequence as follows:
     207-207: T → TQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 668668Protein FAM189B
PRO_0000079261

Regions

Transmembrane34 – 5421Helical; Potential
Transmembrane67 – 8721Helical; Potential
Transmembrane91 – 11121Helical; Potential
Transmembrane174 – 19421Helical; Potential
Compositional bias243 – 2497Poly-Pro
Compositional bias634 – 6385Poly-Ser

Amino acid modifications

Glycosylation1601N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence76 – 17196Missing in isoform B.
VSP_038926
Alternative sequence76 – 9419Missing in isoform 2.
VSP_046728
Alternative sequence2071T → TQ in isoform 2 and isoform 3.
VSP_046729
Natural variant3581S → F in a breast cancer sample; somatic mutation. Ref.7
VAR_035684
Natural variant5491R → H.
Corresponds to variant rs2072648 [ dbSNP | Ensembl ].
VAR_037876
Natural variant6461R → H.
Corresponds to variant rs2072648 [ dbSNP | Ensembl ].
VAR_056842

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified April 20, 2010. Version 2.
Checksum: E22EED90923826BD

FASTA66871,355
        10         20         30         40         50         60 
MMPSPSDSSR SLTSRPSTRG LTHLRLHRPW LQALLTLGLV QVLLGILVVT FSMVASSVTT 

        70         80         90        100        110        120 
TESIKRSCPS WAGFSLAFSG VVGIVSWKRP FTLVISFFSL LSVLCVMLSM AGSVLSCKNA 

       130        140        150        160        170        180 
QLARDFQQCS LEGKVCVCCP SVPLLRPCPE SGQELKVAPN STCDEARGAL KNLLFSVCGL 

       190        200        210        220        230        240 
TICAAIICTL SAIVCCIQIF SLDLVHTLAP ERSVSGPLGP LGCTSPPPAP LLHTMLDLEE 

       250        260        270        280        290        300 
FVPPVPPPPY YPPEYTCSSE TDAQSITYNG SMDSPVPLYP TDCPPSYEAV MGLRGDSQAT 

       310        320        330        340        350        360 
LFDPQLHDGS CICERVASIV DVSMDSGSLV LSAIGDLPGG SSPSEDSCLL ELQGSVRSVD 

       370        380        390        400        410        420 
YVLFRSIQRS RAGYCLSLDC GLRGPFEESP LPRRPPRAAR SYSCSAPEAP PPLGAPTAAR 

       430        440        450        460        470        480 
SCHRLEGWPP WVGPCFPELR RRVPRGGGRP AAAPPTRAPT RRFSDSSGSL TPPGHRPPHP 

       490        500        510        520        530        540 
ASPPPLLLPR SHSDPGITTS SDTADFRDLY TKVLEEEAAS VSSADTGLCS EACLFRLARC 

       550        560        570        580        590        600 
PSPKLLRARS AEKRRPVPTF QKVPLPSGPA PAHSLGDLKG SWPGRGLVTR FLQISRKAPD 

       610        620        630        640        650        660 
PSGTGAHGHK QVPRSLWGRP GRESLHLRSC GDLSSSSSLR RLLSGRRLER GTRPHSLSLN 


GGSRETGL 

« Hide

Isoform B [UniParc].

Checksum: 103AAACFCBD20DF3
Show »

FASTA57261,135
Isoform 2 [UniParc].

Checksum: C852AD556C0848D0
Show »

FASTA65069,425
Isoform 3 [UniParc].

Checksum: E30360AC9A4571E6
Show »

FASTA66971,483

References

« Hide 'large scale' references
[1]"Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease."
Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E.
Genome Res. 7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
Tissue: Hippocampus.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A; B AND 2).
Tissue: Brain, Lymph and Pancreas.
[5]"WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins."
Ludes-Meyers J.H., Kil H., Bednarek A.K., Drake J., Bedford M.T., Aldaz C.M.
Oncogene 23:5049-5055(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH WWOX.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-358.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF023268 Genomic DNA. Translation: AAC51822.1.
AL713999 Genomic DNA. Translation: CAI95092.1.
AL713999 Genomic DNA. Translation: CAI95094.1.
CH471121 Genomic DNA. Translation: EAW53094.1.
CH471121 Genomic DNA. Translation: EAW53097.1.
CH471121 Genomic DNA. Translation: EAW53098.1.
BC040136 mRNA. Translation: AAH40136.2.
BC006493 mRNA. Translation: AAH06493.1.
BC007444 mRNA. Translation: AAH07444.1.
BC010471 mRNA. Translation: AAH10471.1.
BC033707 mRNA. No translation available.
PIRT08827.
RefSeqNP_001254537.1. NM_001267608.1.
NP_006580.2. NM_006589.2.
NP_937995.1. NM_198264.1.
XP_005244902.1. XM_005244845.1.
XP_005276795.1. XM_005276738.1.
UniGeneHs.348308.

3D structure databases

ProteinModelPortalP81408.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115938. 2 interactions.
IntActP81408. 1 interaction.
STRING9606.ENSP00000354958.

PTM databases

PhosphoSiteP81408.

Polymorphism databases

DMDM294862432.

Proteomic databases

PaxDbP81408.
PRIDEP81408.

Protocols and materials databases

DNASU10712.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000350210; ENSP00000307128; ENSG00000160767. [P81408-2]
ENST00000361361; ENSP00000354958; ENSG00000160767. [P81408-1]
ENST00000368368; ENSP00000357352; ENSG00000160767. [P81408-3]
ENST00000572488; ENSP00000458501; ENSG00000262666. [P81408-3]
ENST00000574749; ENSP00000460960; ENSG00000262666. [P81408-2]
ENST00000575430; ENSP00000461152; ENSG00000262666. [P81408-1]
GeneID10712.
KEGGhsa:10712.
UCSCuc001fjm.3. human. [P81408-1]
uc001fjn.3. human. [P81408-2]

Organism-specific databases

CTD10712.
GeneCardsGC01M155216.
H-InvDBHIX0199898.
HGNCHGNC:1233. FAM189B.
HPAHPA006659.
neXtProtNX_P81408.
PharmGKBPA25608.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG26718.
HOGENOMHOG000049214.
HOVERGENHBG051081.
InParanoidP81408.
OMAKVCVCCP.
OrthoDBEOG7X0VGX.
PhylomeDBP81408.
TreeFamTF332736.

Gene expression databases

ArrayExpressP81408.
BgeeP81408.
CleanExHS_C1orf2.
GenevestigatorP81408.

Family and domain databases

InterProIPR007237. CD20-like.
[Graphical view]
PfamPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFAM189B. human.
GenomeRNAi10712.
NextBio40665.
PROP81408.

Entry information

Entry nameF189B_HUMAN
AccessionPrimary (citable) accession number: P81408
Secondary accession number(s): B1AVS5, Q8IXL3, Q9BR66
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: April 20, 2010
Last modified: April 16, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM